A-Z Health Topics

Duchenne Muscular Dystrophy

(DMD; Pseudohypertrophic Muscular Dystrophy)

Definition

Duchenne muscular dystrophy (DMD) is a genetic disease. The main sign of DMD is muscle weakness that worsens over time. Before age 5, the muscles in the legs, arms, and trunk begin to weaken. Later in the disease, the heart and respiratory muscles weaken.

Causes

DMD is caused by a genetic mutation. The mutation causes the gene to make inadequate amounts of a protein called dystrophin. This protein is needed to keep muscles intact.

Risk Factors

Male children and children with a family history of DMD are at increased risk.

Diagnosis

You will be asked about your child’s symptoms and medical history. A physical exam will be done. You will be asked if there is any family history of neuromuscular disease. The exam will focus on your child’s muscles. Signs of weakness will be looked for. Your child will likely be referred to a specialist.

Your child's bodily fluids and tissues may be tested. This can be done with:

Treatment

Talk with your doctor about the best plan for your child. The disease worsens over time. Your child may need different treatments as the disease progresses. Options include the following:

Physical Therapy

Therapy plays a large role in treating DMD. Your child will work with a therapist to try to keep muscles strong.

The disease causes contractures. This is when a muscle shortens, making it difficult to move. The therapist will focus on preventing this with range of motion exercises.

Scoliosis is common in DMD. Exercises can help to keep the back as straight as possible.

Therapy plays a large role in treating DMD. Your child will work with a therapist to try to keep muscles strong.

The disease causes contractures. This is when a muscle shortens, making it difficult to move. The therapist will focus on preventing this with range of motion exercises.

Scoliosis is common in DMD. Exercises can help to keep the back as straight as possible.

Assistive Devices

Braces are used to keep the legs straight and prevent contractures. A
walker
and
wheelchair
may be needed later when the leg muscles become too weak to walk.

Braces are used to keep the legs straight and prevent contractures. A
walker
and
wheelchair
may be needed later when the leg muscles become too weak to walk.

Medications

Steroid medication, like prednisone, may be prescribed. This can help to improve muscle strength and slow muscle weakening. Steroids can weaken bones. To keep bones healthy,
vitamin D
and calcium supplements may be prescribed. If heart problems exist, medications may be given to slow the damage.

Respiratory Therapy

As the disease progresses, the muscles that support breathing may weaken. A ventilator may be needed. It will deliver air through a mask, tube, or sometimes through a
surgical hole in the windpipe called a
tracheotomy
.

Surgery

Surgery is sometimes used to treat symptoms of DMD. For severe contractures, surgery may be done to release specific tendons. Scoliosis can sometimes interfere with your child’s breathing. In this case, back surgery may be done.

Prevention

There are no known guidelines to prevent this progressive muscle disease.

RESOURCES

Muscular Dystrophy Association
http://www.mda.org

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.